FGFR1
fibroblast growth factor receptor 1
Summary
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Known Variants867 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1261528641 | 8:38,268,701 | T/C | — | uncertain significance |
| rs565758830 | 8:38,268,712 | G/A | — | benign |
| rs1004230937 | 8:38,268,738 | G/A | — | uncertain significance |
| rs758524862 | 8:38,268,739 | G/A | — | uncertain significance |
| rs185729862 | 8:38,268,755 | T/C | — | uncertain significance |
| rs146463691 | 8:38,268,958 | A/G | — | likely benign |
| rs16887356 | 8:38,269,047 | A/C | — | benign |
| rs556829066 | 8:38,269,089 | G/A | — | uncertain significance |
| rs536000259 | 8:38,269,164 | T/G | — | conflicting classifications of pathogenicity |
| rs886062907 | 8:38,269,181 | C/T | — | uncertain significance |
| rs1814497706 | 8:38,269,323 | C/T | — | uncertain significance |
| rs570038633 | 8:38,269,324 | T/G | — | likely benign |
| rs183394116 | 8:38,269,376 | C/T | — | benign |
| rs1200256665 | 8:38,269,423 | G/A | — | uncertain significance |
| rs567642271 | 8:38,269,435 | C/T | — | uncertain significance |
| rs763761019 | 8:38,269,470 | C/T | — | uncertain significance |
| rs13317 | 8:38,269,514 | T/C | regulatory region variant | benign |
| rs886062908 | 8:38,269,530 | A/C | — | uncertain significance |
| rs761096092 | 8:38,269,586 | G/A | — | uncertain significance |
| rs17182484 | 8:38,269,648 | G/A | — | benign |
| rs578094209 | 8:38,269,700 | T/G | — | uncertain significance |
| rs11990198 | 8:38,269,707 | A/G | — | likely benign |
| rs886062909 | 8:38,269,860 | G/A | — | uncertain significance |
| rs886062910 | 8:38,269,928 | A/G | — | uncertain significance |
| rs185104092 | 8:38,269,935 | C/A | — | likely benign |
| rs923197183 | 8:38,269,997 | C/T | — | uncertain significance |
| rs886062911 | 8:38,270,002 | C/T | — | uncertain significance |
| rs561923573 | 8:38,270,022 | G/C | — | uncertain significance |
| rs867360704 | 8:38,270,035 | G/A | — | conflicting classifications of pathogenicity |
| rs1287148499 | 8:38,270,060 | T/A | — | uncertain significance |
| rs2536736589 | 8:38,270,077 | G/A | — | uncertain significance |
| rs761124911 | 8:38,270,091 | G/A | — | uncertain significance |
| rs17176088 | 8:38,270,094 | G/A | — | benign |
| rs1814729926 | 8:38,270,100 | T/C | — | uncertain significance |
| rs542417198 | 8:38,270,120 | A/G | — | conflicting classifications of pathogenicity |
| rs17176081 | 8:38,270,152 | A/G | — | benign |
| rs866647792 | 8:38,270,155 | C/T | — | uncertain significance |
| rs567128409 | 8:38,270,183 | G/A | — | benign |
| rs537880800 | 8:38,270,188 | C/T | — | uncertain significance |
| rs941835357 | 8:38,270,189 | G/A | — | uncertain significance |
| rs1814772534 | 8:38,270,218 | C/T | — | uncertain significance |
| rs886062912 | 8:38,270,233 | C/T | — | uncertain significance |
| rs139347382 | 8:38,270,240 | T/A | — | likely benign |
| rs886062913 | 8:38,270,301 | A/G | — | uncertain significance |
| rs1814814648 | 8:38,270,327 | A/C | — | uncertain significance |
| rs938792635 | 8:38,270,344 | G/A | — | uncertain significance |
| rs886062914 | 8:38,270,384 | T/C | — | uncertain significance |
| rs17182477 | 8:38,270,423 | C/G | — | benign |
| rs17182470 | 8:38,270,577 | G/A | — | likely benign |
| rs562843836 | 8:38,270,652 | T/C | — | conflicting classifications of pathogenicity |
| rs764328455 | 8:38,270,755 | G/A | — | uncertain significance |
| rs751699851 | 8:38,270,801 | A/T | — | uncertain significance |
| rs886062915 | 8:38,270,833 | A/G | — | uncertain significance |
| rs915960243 | 8:38,270,884 | G/A | — | uncertain significance |
| rs781117513 | 8:38,270,894 | C/T | — | uncertain significance |
| rs1815036929 | 8:38,270,915 | G/A | — | uncertain significance |
| rs138421779 | 8:38,270,926 | A/G | — | likely benign |
| rs1815042970 | 8:38,270,934 | C/T | — | uncertain significance |
| rs750732571 | 8:38,270,943 | C/T | — | uncertain significance |
| rs886062916 | 8:38,271,028 | G/A | — | uncertain significance |
| rs180885042 | 8:38,271,033 | C/T | — | benign |
| rs1189535138 | 8:38,271,034 | G/A | — | uncertain significance |
| rs886062917 | 8:38,271,075 | T/C | — | uncertain significance |
| rs886062918 | 8:38,271,076 | G/A | — | uncertain significance |
| rs866523242 | 8:38,271,080 | C/T | — | benign |
| rs371776128 | 8:38,271,132 | C/T | — | conflicting classifications of pathogenicity |
| rs758677681 | 8:38,271,150 | C/T | — | conflicting classifications of pathogenicity |
| rs17182463 | 8:38,271,151 | G/A | — | conflicting classifications of pathogenicity |
| rs768736835 | 8:38,271,154 | G/A | — | uncertain significance |
| rs2150504048 | 8:38,271,160 | G/A | — | uncertain significance |
| rs17182456 | 8:38,271,163 | C/T | — | uncertain significance |
| rs1014179319 | 8:38,271,164 | G/A | — | conflicting classifications of pathogenicity |
| rs1815142188 | 8:38,271,168 | T/C | — | uncertain significance |
| rs770921947 | 8:38,271,182 | T/A | — | likely benign |
| rs774120844 | 8:38,271,183 | G/C | — | uncertain significance |
| rs1376789579 | 8:38,271,185 | G/A | — | likely benign |
| rs759376422 | 8:38,271,187 | G/T | — | uncertain significance |
| rs771680156 | 8:38,271,189 | C/T | — | conflicting classifications of pathogenicity |
| rs775166971 | 8:38,271,190 | G/A | — | conflicting classifications of pathogenicity |
| rs374507681 | 8:38,271,191 | G/C | — | likely benign |
| rs1815158655 | 8:38,271,192 | G/C | — | uncertain significance |
| rs2150506099 | 8:38,271,201 | G/T | — | uncertain significance |
| rs765900637 | 8:38,271,208 | C/T | — | uncertain significance |
| rs573344794 | 8:38,271,209 | G/A | — | likely benign |
| rs780308433 | 8:38,271,215 | C/T | — | likely benign |
| rs377620009 | 8:38,271,216 | G/A | — | conflicting classifications of pathogenicity |
| rs755160898 | 8:38,271,222 | T/G | — | uncertain significance |
| rs2150507200 | 8:38,271,223 | G/C | — | uncertain significance |
| rs2150507302 | 8:38,271,225 | G/A | — | uncertain significance |
| rs781328162 | 8:38,271,232 | C/T | — | uncertain significance |
| rs369652756 | 8:38,271,233 | G/A | — | likely benign |
| rs1815179968 | 8:38,271,245 | T/C | — | likely benign |
| rs2150508439 | 8:38,271,247 | A/G | — | uncertain significance |
| rs770834000 | 8:38,271,248 | G/A | — | likely benign |
| rs200408837 | 8:38,271,254 | C/T | — | likely benign |
| rs867532966 | 8:38,271,256 | T/C | — | uncertain significance |
| rs2536761661 | 8:38,271,259 | A/C | — | uncertain significance |
| rs746602135 | 8:38,271,264 | C/T | — | conflicting classifications of pathogenicity |
| rs377149398 | 8:38,271,265 | G/A | — | uncertain significance |
| rs1815191043 | 8:38,271,267 | G/A | — | uncertain significance |
Showing 100 of 867 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.